Figure 3 | Scientific Reports

Figure 3

From: Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD

Figure 3

Disruptive mutations and protein structure.

(a) Sanger sequencing chromatograms of five disruptive mutations identified in five patients with STAAD. (b) Structural analysis of fibrillin-1 with a premature stop mutation in the cb EGF-like domain. Locations of residues R861 are shown in yellow. Two calcium binding sites are shown in cyan. 3D structural model is established using PyMOL Molecular Graphics System (Schrödinger L. version 1.3r1, 2010). This structure contains 147 amino acids (residues 807–951) (ID# 2W86, PDB Bank, http://www.pdb.org).

Back to article page